T118K (p.Thr118Lys) variant of HSPG2 (P98160)
T118K (p.Thr118Lys) in HSPG2 (P98160) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
T118K (p.Thr118Lys) variant details
- p.Thr118Lys
- ExAC rs769350557
- TOPMed rs769350557
- gnomAD rs769350557
- Uncertain significance
- Missense
- REVEL 0.11
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)